Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	478
Gene name	ATPase Na+/K+ transporting subunit alpha 3
Gene symbol	ATP1A3
Synonyms (NCBI Gene)	AHC2ATP1A1CAPOSDEE99DYT12RDP
Chromosome	19
Chromosome location	19q13.2
Summary	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients o

Show/Hide all (86)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356532	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs80356533	C>T	Pathogenic	Coding sequence variant, missense variant
rs80356535	A>C	Pathogenic	Coding sequence variant, missense variant
rs80356536	A>G	Pathogenic	Coding sequence variant, missense variant
rs80356537	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs146600566	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150943961	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs180749411	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200891944	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs267606670	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs369853936	T>C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, intron variant
rs387907281	C>T	Pathogenic	Coding sequence variant, missense variant
rs387907282	A>G	Pathogenic	Coding sequence variant, missense variant
rs397515382	->TAG	Pathogenic	Inframe insertion, terminator codon variant
rs397515577	G>A	Pathogenic	Coding sequence variant, missense variant
rs397515578	CAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs398122887	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs534926223	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs536681257	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs542652468	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs549006436	A>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs557052809	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs557939077	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs573535377	G>T	Pathogenic	Missense variant, coding sequence variant
rs587777771	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs606231427	T>A	Pathogenic	Coding sequence variant, missense variant
rs606231428	A>T	Pathogenic	Coding sequence variant, missense variant
rs606231430	C>A	Pathogenic	Coding sequence variant, missense variant
rs606231431	T>G	Pathogenic	Coding sequence variant, missense variant
rs606231432	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231433	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231434	C>G	Pathogenic	Coding sequence variant, missense variant
rs606231435	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231436	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231437	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs606231438	G>A	Pathogenic	Coding sequence variant, missense variant
rs606231439	G>C	Pathogenic	Coding sequence variant, missense variant
rs606231440	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs606231441	C>T	Pathogenic	Splice donor variant
rs606231442	C>T	Pathogenic	Coding sequence variant, missense variant
rs606231443	GAC>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion
rs606231444	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs606231445	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs606231446	G>T	Pathogenic	Coding sequence variant, missense variant
rs606231447	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs606231448	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231449	A>G	Pathogenic	Coding sequence variant, missense variant
rs781822752	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs781928217	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782082118	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs782175860	C>T	Pathogenic	Missense variant, coding sequence variant
rs782312004	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs782717865	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs797044897	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs863224847	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs864309572	G>A	Pathogenic	Missense variant, coding sequence variant
rs869320661	C>T	Pathogenic	Missense variant, coding sequence variant
rs879255368	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs886041396	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs886041431	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057516032	AGTCT>GA	Pathogenic	Coding sequence variant, inframe indel
rs1064795234	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795403	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1064797245	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1085307933	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1085307992	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691307	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691813	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691940	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1135401821	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1135401822	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555859144	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555859157	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555859571	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555859593	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555865385	GAG>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion
rs1555865401	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568853466	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599705281	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599706511	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599706522	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599712456	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599712523	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599719527	AGGTTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1599719534	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599725621	C>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029518	hsa-miR-26b-5p	Microarray	19088304
MIRT626514	hsa-miR-8485	HITS-CLIP	23824327
MIRT626513	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT626512	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT626511	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT626508	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT626507	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626506	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626505	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT626504	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626514	hsa-miR-8485	HITS-CLIP	23824327
MIRT626513	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT626512	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT626511	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT626510	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT626509	hsa-miR-4286	HITS-CLIP	23824327
MIRT626508	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT626507	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626506	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626505	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT626504	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626503	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT626502	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT626514	hsa-miR-8485	HITS-CLIP	23824327
MIRT626513	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT626512	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT626511	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT626508	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT626507	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626506	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626505	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT626504	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626514	hsa-miR-8485	HITS-CLIP	23824327
MIRT626513	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT626512	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT626511	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT626510	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT626509	hsa-miR-4286	HITS-CLIP	23824327
MIRT626508	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT626507	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626506	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626505	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT626504	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626503	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT626502	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT806937	hsa-miR-1275	CLIP-seq
MIRT806938	hsa-miR-2861	CLIP-seq
MIRT806939	hsa-miR-3191	CLIP-seq
MIRT806940	hsa-miR-361-3p	CLIP-seq
MIRT806941	hsa-miR-4268	CLIP-seq
MIRT806942	hsa-miR-4271	CLIP-seq
MIRT806943	hsa-miR-4525	CLIP-seq
MIRT806944	hsa-miR-4665-5p	CLIP-seq
MIRT806945	hsa-miR-4723-5p	CLIP-seq
MIRT806946	hsa-miR-4725-3p	CLIP-seq
MIRT806947	hsa-miR-625	CLIP-seq
MIRT806948	hsa-miR-637	CLIP-seq
MIRT806949	hsa-miR-661	CLIP-seq

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001540	Function	Amyloid-beta binding	IDA	26224839
GO:0001540	Function	Amyloid-beta binding	TAS	26871627
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IBA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IDA	10636900
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IEA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IMP	15260953
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	NAS	26224839
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	15260953
GO:0005783	Component	Endoplasmic reticulum	IDA	15260953
GO:0005794	Component	Golgi apparatus	IDA	15260953
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15260953
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IGI	19751721
GO:0005886	Component	Plasma membrane	TAS
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IC	15260953
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IDA	10636900
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IEA
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	NAS	26224839
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	IBA
GO:0006883	Process	Intracellular sodium ion homeostasis	IDA	10636900
GO:0008556	Function	P-type potassium transmembrane transporter activity	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	NAS	15260953
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IEA
GO:0030007	Process	Intracellular potassium ion homeostasis	IBA
GO:0030007	Process	Intracellular potassium ion homeostasis	IDA	10636900
GO:0030424	Component	Axon	IDA	26224839
GO:0031090	Component	Organelle membrane	IGI	19751721
GO:0032809	Component	Neuronal cell body membrane	IC	26224839
GO:0036376	Process	Sodium ion export across plasma membrane	IBA
GO:0036376	Process	Sodium ion export across plasma membrane	IDA	10636900
GO:0043025	Component	Neuronal cell body	IDA	26224839
GO:0045202	Component	Synapse	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	10636900
GO:0060075	Process	Regulation of resting membrane potential	TAS	26224839
GO:0060342	Component	Photoreceptor inner segment membrane	ISS	26373354
GO:0071383	Process	Cellular response to steroid hormone stimulus	NAS	11546672
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	TAS	19683723
GO:0098984	Component	Neuron to neuron synapse	ISS
GO:1902600	Process	Proton transmembrane transport	IBA
GO:1903416	Process	Response to glycoside	NAS	11546672
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904646	Process	Cellular response to amyloid-beta	ISS
GO:1990239	Function	Steroid hormone binding	NAS	11546672
GO:1990535	Process	Neuron projection maintenance	IGI	26224839
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	10636900

MIM	HGNC	e!Ensembl
182350	801	ENSG00000105409

P13637

Protein name

Sodium/potassium-transporting ATPase subunit alpha-3 (Na(+)/K(+) ATPase alpha-3 subunit) (EC 7.2.2.13) (Na(+)/K(+) ATPase alpha(III) subunit) (Sodium pump subunit alpha-3)

Protein function

This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassi

PDB

8D3U , 8D3V , 8D3W , 8D3X , 8D3Y

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00690	Cation_ATPase_N	33 → 101	Cation transporter/ATPase, N-terminus	Domain
PF00122	E1-E2_ATPase	153 → 344		Family
PF13246	Cation_ATPase	416 → 511		Family
PF00689	Cation_ATPase_C	789 → 998	Cation transporting ATPase, C-terminus	Family

Sequence

MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQE
ILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNL
YLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDL
VEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCV
EGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILS
LILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGST
STICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR
AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQL
SIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGE
RVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAG
IKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDL
KDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADI
GVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPF
LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLI
SMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQ
RKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSY
CPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY

Sequence length

1013

Interactions

View interactions

1571

Show/Hide Causal Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal earlobe morphology	Pathogenic	rs542652468	RCV000414799
Alternating hemiplegia of childhood	Likely pathogenic; Pathogenic	rs606231430, rs1599706522	RCV002284134 RCV000825579
Alternating hemiplegia of childhood 2	Likely pathogenic; Pathogenic	rs2075071667, rs1555863693, rs1555863623, rs2075090666, rs2145972483, rs398122887, rs587777771, rs1064797245, rs606231444, rs267606670, rs606231441, rs606231437, rs606231435, rs80356532, rs542652468 View all (16 more)	RCV001330417 RCV004796628 RCV001844305 RCV001844314 RCV001667867 RCV000128466 RCV000195001 RCV002283869 RCV004795845 RCV000148329 RCV000148326 RCV000148319 RCV000578251 RCV000148305 RCV000148303 RCV002466333 RCV004796087 RCV000193987 RCV003223518 RCV003114440 RCV001775110 RCV001004717 RCV000128465 RCV000853257 RCV000501825 RCV000504338 RCV000030749 RCV000030750 RCV000030751 RCV000030752 RCV000850517 RCV001004770 RCV001004679 RCV001004744 RCV001257081 RCV001260491
Apnea	Likely pathogenic; Pathogenic	rs879255368	RCV000626998
ATP1A3-associated neurological disorder	Likely pathogenic; Pathogenic	rs606231435, rs2514079611, rs267606670, rs1057516032, rs1064797245, rs1599706522, rs2075237416	RCV002272140 RCV003123549 RCV003389231 RCV004786673 RCV004787793 RCV003985095 RCV001249730
ATP1A3-related disorder	Likely pathogenic; Pathogenic	rs606231435, rs879975642, rs869320661, rs1555865401, rs886041396, rs267606670, rs1064797245, rs80356537, rs398122887	RCV005867931 RCV002308727 RCV003335231 RCV004725134 RCV005869200 RCV005867748 RCV004737556 RCV001265551 RCV004549395
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Pathogenic; Likely pathogenic	rs1555863693, rs2145946065, rs587777771, rs606231435, rs606231444, rs1057522886, rs797044897, rs863224847, rs864309572, rs267606670, rs782175860, rs1064797245, rs1135401822, rs1135401821, rs80356537 View all (4 more)	RCV004796628 RCV001809048 RCV000144250 RCV005865104 RCV004795845 RCV000791274 RCV002465433 RCV004796087 RCV000199314 RCV001808560 RCV000763432 RCV002510573 RCV000850500 RCV000496169 RCV000496204 RCV000515424 RCV000763433 RCV000763431 RCV000850517 RCV000995498 RCV001254116
Delayed speech and language development	Likely pathogenic; Pathogenic	rs879255368	RCV000626998
Depressed nasal bridge	Pathogenic	rs542652468	RCV000414799
Developmental and epileptic encephalopathy 99	Likely pathogenic; Pathogenic	rs2075159021, rs1555863693, rs2145977887, rs2145977758, rs2145972497, rs2075284959, rs606231439, rs2145945797, rs2145946065, rs2514032458, rs2514054212, rs606231444, rs606231443, rs797044897, rs886041396, rs782175860, rs80356537, rs387907281 View all (3 more)	RCV002510592 RCV004796628 RCV001777181 RCV001777182 RCV001777183 RCV001808878 RCV001808892 RCV002086731 RCV002281623 RCV002281624 RCV002289041 RCV004795845 RCV004576923 RCV004796087 RCV003236579 RCV004017606 RCV002281545 RCV001807744
Dyskinesia	Pathogenic	rs387907281	RCV002243675
Dystonia 12	Likely pathogenic; Pathogenic	rs2075159021, rs2075276177, rs2145944794, rs1555863693, rs606231432, rs1568853466, rs2145972483, rs2145945887, rs2145971509, rs2145945849, rs2145972442, rs398122887, rs2145959709, rs2145965854, rs2145945805 View all (66 more)	RCV001342673 RCV001352343 RCV001726499 RCV001389186 RCV001381008 RCV002568966 RCV001882766 RCV001838832 RCV001863934 RCV001945371 RCV001977812 RCV001849915 RCV002044429 RCV001986864 RCV001959793 RCV002010428 RCV000234480 RCV002249284 RCV002249285 RCV002274491 RCV000148335 RCV004795845 RCV000689821 RCV000818134 RCV002273963 RCV001850014 RCV000644929 RCV001058556 RCV002514853 RCV000148315 RCV001381006 RCV000816262 RCV003041374 RCV001381007 RCV005089717 RCV001234241 RCV001206535 RCV003074994 RCV002601844 RCV004796087 RCV002795956 RCV002880636 RCV002871611 RCV002899175 RCV002909619 RCV003765310 RCV003024079 RCV003019546 RCV003043570 RCV003039836 RCV000210848 RCV003148187 RCV003333250 RCV002274003 RCV001197881 RCV000013772 RCV000013773 RCV000013774 RCV000013775 RCV000013776 RCV000013777 RCV000013778 RCV003515580 RCV003516089 RCV003627878 RCV003628175 RCV003628187 RCV003626139 RCV001387923 RCV000467092 RCV001210745 RCV000692668 RCV001060259 RCV000515424 RCV000469482 RCV000541711 RCV000476589 RCV000525007 RCV001047167 RCV002529802 RCV000705732 RCV000797584 RCV000813878 RCV000793132 RCV000850517 RCV000990221 RCV000990222 RCV000990223 RCV000995499 RCV000995500 RCV001056665 RCV001049962 RCV001257081 RCV001235897 RCV001300685
Dystonic disorder	Pathogenic	rs80356537, rs387907281	RCV001004008 RCV002243675
Epicanthus	Pathogenic	rs542652468	RCV000414799
Epilepsy	Pathogenic	rs398122887	RCV000415180
Epileptic encephalopathy	Likely pathogenic	rs1599719527	RCV001004009
Global developmental delay	Pathogenic	rs387907281	RCV000626997
Hemiplegia	Pathogenic; Likely pathogenic	rs387907281, rs398122887, rs879255368	RCV000626997 RCV000415180 RCV000626998
Hereditary ataxia	Likely pathogenic; Pathogenic	rs1599725621	RCV005626290
Intellectual disability	Likely pathogenic	rs1135401821	RCV005621958
Juvenile onset psychosis	Likely pathogenic; Pathogenic	rs1555865401	RCV000225081
Neurodevelopmental delay	Pathogenic	rs387907281	RCV002243675
Oculogyric crisis	Pathogenic; Likely pathogenic	rs80356537, rs387907281, rs879255368	RCV001004008 RCV000626997 RCV000626998
Seizure	Pathogenic; Likely pathogenic	rs542652468, rs782175860, rs267606670, rs1064797245, rs387907281, rs879255368	RCV000414799 RCV005624503 RCV004577942 RCV004586737 RCV002243675 RCV000626998
Seizures, benign familial neonatal, 1	Pathogenic	rs2145972429	RCV001667869
Tetraparesis	Pathogenic	rs80356537	RCV001004008
Undetermined early-onset epileptic encephalopathy	Likely pathogenic	rs2145983235	RCV002086741
Ventriculomegaly	Pathogenic	rs542652468	RCV000414799

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs138485069	RCV005918961
Esophageal atresia	Uncertain significance	rs1599713761	RCV000984717
Malignant tumor of esophagus	Benign	rs138485069, rs191645384	RCV005918962 RCV005895537
Paroxysmal central nervous system disorders	Uncertain significance	rs2075273567	RCV006444298
Pyloric stenosis	Uncertain significance	rs1599713761	RCV000984717
Sarcoma	Benign	rs138485069	RCV005918964
Uterine corpus endometrial carcinoma	Benign	rs138485069	RCV005918965
Uveal melanoma	Benign	rs138485069	RCV005918963

Show/Hide Text Mining Associations (80)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenal Hyperplasia Congenital	Associate	26410222, 35177115, 37482377
Alcohol Related Disorders	Associate	25656163, 37043503
Alternating hemiplegia of childhood	Associate	24468074, 24803225, 24842602, 25656163, 25996915, 26297560, 26400718, 26410222, 27146299, 27634470, 29269014, 29895895, 30891744, 31425744, 32348881 View all (8 more)
Aphasia	Associate	26410222
Arrhythmias Cardiac	Associate	34459253
Ataxia	Associate	26990090, 29915382, 39712145
Ataxia Telangiectasia Like Disorder	Associate	29915382
Atrioventricular Block	Associate	32913013
Auditory neuropathy	Associate	29184165, 38456936
Autistic Disorder	Associate	34549350, 37482377
Bilateral Vestibulopathy	Associate	26400718, 27634470, 29184165, 32913013
Bradycardia	Associate	34459253
Brain Diseases	Associate	26400718, 31425744
CAPOS syndrome	Associate	24468074, 26400718
Cardiovascular Diseases	Associate	39712145
Cerebellar Ataxia	Associate	26400718, 27634470, 29184165, 32895939, 32913013, 35110381
Cerebellar Diseases	Associate	32895939, 35326432
Cerebral Palsy	Associate	37043503
Chorea	Associate	36054588
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	27634470
Cognition Disorders	Associate	37482377, 39712145
Congenital myasthenic syndrome with episodic apnea	Associate	25656163
Death	Associate	34459253
Death Sudden	Associate	34459253
Death Sudden Cardiac	Associate	32913013
Deglutition Disorders	Associate	22534615
Depression Postpartum	Associate	25656163
Developmental Disabilities	Associate	25656163, 37043503
Disease	Associate	29895895
Dystonia	Associate	15260948, 22534615, 31871823, 33144327, 35110381, 37482377, 39712145
Dystonia 12	Associate	15260948, 15260953, 22534615, 22933743, 24436111, 24803225, 26400718, 26990090, 27634470, 27835968, 31361359, 31425744, 33222902, 34413044
Dystonic Disorders	Associate	24468074
Epilepsy	Associate	24842602, 25656163, 26410222, 30977854, 33144327, 39712145
Familial paroxysmal dystonia	Associate	31871823, 39712145
Flatfoot	Associate	32627437
Gait Disorders Neurologic	Associate	35177115, 37614148
Genetic Diseases Inborn	Associate	34117072, 37614148
Glioblastoma	Associate	22575386, 36627101
Glioma	Associate	36627101
Hearing Disorders	Associate	29184165
Hearing Loss	Associate	29184165
Hearing Loss Sensorineural	Associate	26400718, 27634470, 29184165, 32913013
Heart defects limb shortening	Associate	34459253
Heredodegenerative Disorders Nervous System	Associate	27634470
Hyperkinesis	Associate	32348881, 36054588
Infantile Epileptic Dyskinetic Encephalopathy	Associate	31425744
Intellectual Disability	Associate	26410222, 35110381, 37043503
Long QT Syndrome	Associate	25656163
Malformations of Cortical Development	Associate	32348881, 34161264
Mental Retardation Autosomal Dominant 1	Associate	37482377
Microcephaly	Associate	31425744
Microphthalmia Syndromic 10	Associate	31425744
Migraine with Aura	Associate	35110381
Mitochondrial Diseases	Associate	26400718
Mood Disorders	Associate	31361359
Motor Disorders	Associate	25996915, 29269014
Movement Disorders	Associate	26410222, 31871823
Muscle Hypotonia	Associate	33144327
Muscle Spasticity	Associate	35110381, 37043503
Neoplasms	Inhibit	36627101
Neurologic Manifestations	Associate	31425744, 32895939, 37043503, 37482377, 39712145
Neuromuscular Diseases	Associate	30539418
Optic Atrophy	Associate	26400718, 27634470, 29184165, 32913013
Optic atrophy polyneuropathy deafness	Associate	27634470
Paralysis	Associate	27634470
Paresis	Associate	39712145
Parkinson Disease Secondary	Associate	15260953
Parkinsonism Dystonia Infantile	Associate	15260953, 22534615, 24468074, 25656163, 26400718, 26990090
Peripheral Nervous System Diseases	Associate	35110381
Polymicrogyria	Associate	34161264
Psychotic Disorders	Associate	22933743, 31361359, 39950246
Schizophrenia Childhood	Associate	29895895
Seizures	Associate	26410222, 29269014, 31618474, 32913013, 35110381, 37482377
Spastic Paraplegia Hereditary	Associate	37043503
Spinocerebellar Degenerations	Associate	35326432
Status Epilepticus	Associate	25996915
Substance Related Disorders	Associate	22933743
Talipes Cavus	Associate	26400718, 27634470, 29184165, 32913013
Ventricular Fibrillation	Associate	34459253
Wallerian degeneration of the pyramidal tract	Associate	27835968

ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)